Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
ATXN1_chr6_16294112_16766460	16327287	G G	A A	synonymous_variant synonymous_variant	LOW	HG02970.hp2 HG02970.hp2	a0005 a0005	a0005c0060 a0005c0060	a0005c0060t0006 a0005c0060t0006	a0005c0060t0006g0132 a0005c0060t0006g0132	1	182	0.0055	c.102 others(4): Show c.1024C>T	p.Leu others(6): Show p.Leu342Leu	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1916/10557	1024/2448	342/815	chr6	TogoVar
ATXN1_chr6_16294112_16766460	16327384	A A	G G	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00140.hp2 HG00408.hp2 others(142): Show HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(34): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038	a0001c0001 a0001c0027 a0001c0028 others(49): Show a0001c0001 a0001c0027 a0001c0028 a0001c0052 a0002c0002 a0002c0004 a0003c0050 a0004c0015 a0004c0023 a0004c0031 a0005c0006 a0005c0060 a0006c0008 a0006c0043 a0007c0009 a0007c0059 a0008c0012 a0008c0024 a0009c0016 a0009c0042 a0010c0039 a0011c0007 a0012c0011 a0013c0013 a0014c0017 a0015c0030 a0015c0055 a0016c0014 a0017c0022 a0017c0040 a0018c0054 a0018c0056 a0019c0026 a0021c0021 a0022c0019 a0023c0034 a0023c0035 a0024c0018 a0025c0062 a0026c0061 a0027c0049 a0028c0053 a0029c0057 a0030c0058 a0031c0048 a0032c0045 a0033c0044 a0034c0047 a0035c0036 a0036c0037 a0037c0032 a0038c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(87): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0020 a0001c0001t0029 a0001c0001t0030 a0001c0001t0044 a0001c0027t0001 a0001c0028t0015 a0001c0052t0047 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0016 a0002c0002t0041 a0002c0002t0043 a0002c0004t0001 a0002c0004t0017 a0003c0050t0045 a0004c0015t0001 a0004c0023t0002 a0004c0023t0009 a0004c0031t0002 a0005c0006t0003 a0005c0006t0006 a0005c0006t0009 a0005c0060t0006 a0006c0008t0002 a0006c0008t0010 a0006c0008t0011 a0006c0008t0040 a0006c0008t0046 a0006c0043t0010 a0007c0009t0002 a0007c0009t0035 a0007c0009t0049 a0007c0059t0012 a0008c0012t0005 a0008c0024t0001 a0009c0016t0001 a0009c0016t0007 a0009c0016t0028 a0009c0042t0011 a0010c0039t0001 a0011c0007t0002 a0011c0007t0003 a0012c0011t0004 a0012c0011t0023 a0013c0013t0005 a0013c0013t0016 a0014c0017t0004 a0014c0017t0025 a0015c0030t0004 a0015c0030t0014 a0015c0055t0004 a0016c0014t0007 a0016c0014t0012 a0016c0014t0027 a0017c0022t0001 a0017c0040t0007 a0018c0054t0001 a0018c0056t0007 a0019c0026t0001 a0019c0026t0019 a0021c0021t0004 a0021c0021t0014 a0022c0019t0001 a0023c0034t0002 a0023c0035t0001 a0024c0018t0001 a0024c0018t0012 a0025c0062t0038 a0026c0061t0036 a0027c0049t0003 a0028c0053t0004 a0029c0057t0001 a0030c0058t0018 a0031c0048t0042 a0032c0045t0018 a0033c0044t0024 a0034c0047t0002 a0035c0036t0007 a0036c0037t0001 a0037c0032t0002 a0038c0033t0002	a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 others(142): Show a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0083 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0123 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0002g0020 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0129 a0001c0001t0005g0085 a0001c0001t0011g0131 a0001c0001t0020g0002 a0001c0001t0029g0145 a0001c0001t0030g0021 a0001c0001t0044g0118 a0001c0027t0001g0024 a0001c0027t0001g0107 a0001c0028t0015g0017 a0001c0028t0015g0125 a0001c0052t0047g0060 a0002c0002t0001g0071 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0003g0007 a0002c0002t0003g0061 a0002c0002t0003g0133 a0002c0002t0007g0136 a0002c0002t0008g0063 a0002c0002t0008g0081 a0002c0002t0008g0116 a0002c0002t0008g0138 a0002c0002t0008g0140 a0002c0002t0009g0094 a0002c0002t0010g0015 a0002c0002t0016g0111 a0002c0002t0041g0079 a0002c0002t0043g0175 a0002c0004t0001g0046 a0002c0004t0001g0073 a0002c0004t0001g0080 a0002c0004t0001g0084 a0002c0004t0001g0093 a0002c0004t0001g0174 a0002c0004t0001g0182 a0002c0004t0017g0121 a0002c0004t0017g0179 a0003c0050t0045g0147 a0004c0015t0001g0152 a0004c0015t0001g0157 a0004c0015t0001g0176 a0004c0023t0002g0035 a0004c0023t0009g0110 a0004c0031t0002g0101 a0005c0006t0003g0006 a0005c0006t0003g0051 a0005c0006t0003g0057 a0005c0006t0003g0070 a0005c0006t0003g0114 a0005c0006t0003g0166 a0005c0006t0006g0010 a0005c0006t0009g0163 a0005c0060t0006g0132 a0006c0008t0002g0013 a0006c0008t0002g0137 a0006c0008t0010g0038 a0006c0008t0011g0053 a0006c0008t0040g0154 a0006c0008t0046g0062 a0006c0043t0010g0128 a0007c0009t0002g0028 a0007c0009t0002g0056 a0007c0009t0002g0126 a0007c0009t0002g0164 a0007c0009t0035g0018 a0007c0009t0049g0005 a0007c0059t0012g0030 a0008c0012t0005g0078 a0008c0012t0005g0091 a0008c0012t0005g0092 a0008c0012t0005g0168 a0008c0024t0001g0074 a0008c0024t0001g0143 a0009c0016t0001g0034 a0009c0016t0007g0151 a0009c0016t0028g0141 a0009c0042t0011g0047 a0010c0039t0001g0181 a0011c0007t0002g0040 a0011c0007t0002g0097 a0011c0007t0002g0162 a0011c0007t0002g0169 a0011c0007t0002g0172 a0011c0007t0003g0066 a0012c0011t0004g0050 a0012c0011t0004g0086 a0012c0011t0004g0144 a0012c0011t0004g0161 a0012c0011t0023g0023 a0013c0013t0005g0036 a0013c0013t0005g0100 a0013c0013t0016g0153 a0014c0017t0004g0044 a0014c0017t0004g0171 a0014c0017t0025g0142 a0015c0030t0004g0032 a0015c0030t0014g0102 a0015c0055t0004g0067 a0016c0014t0007g0155 a0016c0014t0012g0135 a0016c0014t0027g0134 a0017c0022t0001g0104 a0017c0022t0001g0146 a0017c0040t0007g0022 a0018c0054t0001g0115 a0018c0056t0007g0011 a0019c0026t0001g0098 a0019c0026t0019g0001 a0021c0021t0004g0069 a0021c0021t0014g0082 a0022c0019t0001g0025 a0022c0019t0001g0127 a0023c0034t0002g0124 a0023c0035t0001g0064 a0024c0018t0001g0009 a0024c0018t0012g0148 a0025c0062t0038g0087 a0026c0061t0036g0095 a0027c0049t0003g0149 a0028c0053t0004g0065 a0029c0057t0001g0016 a0030c0058t0018g0054 a0031c0048t0042g0026 a0032c0045t0018g0059 a0033c0044t0024g0048 a0034c0047t0002g0029 a0035c0036t0007g0019 a0036c0037t0001g0117 a0037c0032t0002g0170 a0038c0033t0002g0004	145	182	0.7967	c.927 others(3): Show c.927T>C	p.Ala others(6): Show p.Ala309Ala	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1819/10557	927/2448	309/815	chr6	TogoVar
ATXN1_chr6_16294112_16766460	16327423	G G	A A	synonymous_variant synonymous_variant	LOW	NA18993.hp1 NA18993.hp1	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0001 a0023c0035t0001	a0023c0035t0001g0064 a0023c0035t0001g0064	1	182	0.0055	c.888 others(3): Show c.888C>T	p.Ser others(6): Show p.Ser296Ser	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1780/10557	888/2448	296/815	chr6	TogoVar
ATXN1_chr6_16294112_16766460	16327456	G G	A A	synonymous_variant synonymous_variant	LOW	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0051 a0003c0051	a0003c0051t0010 a0003c0051t0010	a0003c0051t0010g0173 a0003c0051t0010g0173	1	182	0.0055	c.855 others(3): Show c.855C>T	p.Pro others(6): Show p.Pro285Pro	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1747/10557	855/2448	285/815	chr6	TogoVar
ATXN1_chr6_16294112_16766460	16327837	T T	C C	synonymous_variant synonymous_variant	LOW	HG00408.hp2 HG00438.hp2 HG00597.hp1 others(46): Show HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG01109.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01884.hp2 HG02004.hp2 HG02056.hp2 HG02132.hp1 HG02257.hp1 HG02280.hp2 HG02523.hp1 HG02615.hp1 HG02630.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03688.hp2 HG04184.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18944.hp2 NA18955.hp2 NA18972.hp2 NA18973.hp2 NA18986.hp1 NA19007.hp2 NA19009.hp1 NA19060.hp1 NA19062.hp2 NA19240.hp1 NA20300.hp2	a0002 a0005 a0007 others(5): Show a0002 a0005 a0007 a0014 a0025 a0026 a0029 a0030	a0002c0002 a0002c0004 a0005c0006 others(8): Show a0002c0002 a0002c0004 a0005c0006 a0005c0060 a0007c0009 a0007c0059 a0014c0017 a0025c0062 a0026c0061 a0029c0057 a0030c0058	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(23): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0016 a0002c0002t0041 a0002c0002t0043 a0002c0004t0001 a0002c0004t0017 a0005c0006t0003 a0005c0006t0006 a0005c0006t0009 a0005c0060t0006 a0007c0009t0002 a0007c0009t0035 a0007c0009t0049 a0007c0059t0012 a0014c0017t0004 a0014c0017t0025 a0025c0062t0038 a0026c0061t0036 a0029c0057t0001 a0030c0058t0018	a0002c0002t0001g0071 a0002c0002t0002g0089 a0002c0002t0002g0090 others(46): Show a0002c0002t0001g0071 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0003g0007 a0002c0002t0003g0061 a0002c0002t0003g0133 a0002c0002t0007g0136 a0002c0002t0008g0063 a0002c0002t0008g0081 a0002c0002t0008g0116 a0002c0002t0008g0138 a0002c0002t0008g0140 a0002c0002t0009g0094 a0002c0002t0010g0015 a0002c0002t0016g0111 a0002c0002t0041g0079 a0002c0002t0043g0175 a0002c0004t0001g0046 a0002c0004t0001g0073 a0002c0004t0001g0080 a0002c0004t0001g0084 a0002c0004t0001g0093 a0002c0004t0001g0174 a0002c0004t0001g0182 a0002c0004t0017g0121 a0002c0004t0017g0179 a0005c0006t0003g0006 a0005c0006t0003g0051 a0005c0006t0003g0057 a0005c0006t0003g0070 a0005c0006t0003g0114 a0005c0006t0003g0166 a0005c0006t0006g0010 a0005c0006t0009g0163 a0005c0060t0006g0132 a0007c0009t0002g0028 a0007c0009t0002g0056 a0007c0009t0002g0126 a0007c0009t0002g0164 a0007c0009t0035g0018 a0007c0009t0049g0005 a0007c0059t0012g0030 a0014c0017t0004g0044 a0014c0017t0004g0171 a0014c0017t0025g0142 a0025c0062t0038g0087 a0026c0061t0036g0095 a0029c0057t0001g0016 a0030c0058t0018g0054	49	182	0.2692	c.474 others(3): Show c.474A>G	p.Ala others(6): Show p.Ala158Ala	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1366/10557	474/2448	158/815	chr6	TogoVar
ATXN1_chr6_16294112_16766460	16328137	C C	T T	synonymous_variant synonymous_variant	LOW	NA18942.hp2 NA18942.hp2	a0004 a0004	a0004c0031 a0004c0031	a0004c0031t0002 a0004c0031t0002	a0004c0031t0002g0101 a0004c0031t0002g0101	1	182	0.0055	c.174 others(3): Show c.174G>A	p.Gly others(5): Show p.Gly58Gly	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1066/10557	174/2448	58/815	chr6	TogoVar
ATXN2L_chr16_28817999_28842232	28823322	G G	A A	synonymous_variant synonymous_variant	LOW	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0076 a0001c0007t0001g0076	1	382	0.0026	c.63G others(2): Show c.63G>A	p.Gln others(5): Show p.Gln21Gln	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	1/22	324/4456	63/3228	21/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28823448	C C	T T	synonymous_variant synonymous_variant	LOW	HG01884.hp2 HG02055.hp2 HG02280.hp2 others(11): Show HG01884.hp2 HG02055.hp2 HG02280.hp2 HG02615.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03225.hp1 HG03471.hp1 NA19043.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0006t0001 a0001c0003t0001 a0001c0006t0001	a0001c0003t0001g0008 a0001c0003t0001g0081 a0001c0003t0001g0083 others(3): Show a0001c0003t0001g0008 a0001c0003t0001g0081 a0001c0003t0001g0083 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0006t0001g0008	14	382	0.0367	c.189 others(3): Show c.189C>T	p.Ala others(5): Show p.Ala63Ala	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	1/22	450/4456	189/3228	63/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28829975	C C	T T	synonymous_variant synonymous_variant	LOW	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0008 a0001c0006t0001g0008	2	382	0.0052	c.951 others(3): Show c.951C>T	p.Asn others(6): Show p.Asn317Asn	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	8/22	1212/4456	951/3228	317/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28830630	C C	T T	synonymous_variant synonymous_variant	LOW	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0063 a0001c0024t0001g0063	1	382	0.0026	c.105 others(4): Show c.1050C>T	p.Ile others(6): Show p.Ile350Ile	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	9/22	1311/4456	1050/3228	350/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28830990	A A	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(376): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(9): Show a0000 a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011	a0000c0019 a0001c0001 a0001c0002 others(24): Show a0000c0019 a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0016 a0001c0020 a0001c0021 a0001c0022 a0001c0024 a0002c0028 a0003c0009 a0004c0026 a0005c0025 a0006c0017 a0007c0018 a0008c0015 a0009c0023 a0010c0027 a0011c0008	a0000c0019t0010 a0001c0001t0001 a0001c0001t0002 others(36): Show a0000c0019t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0004t0006 a0001c0006t0001 a0001c0007t0001 a0001c0010t0012 a0001c0011t0001 a0001c0012t0001 a0001c0013t0001 a0001c0014t0001 a0001c0016t0003 a0001c0020t0001 a0001c0021t0001 a0001c0022t0001 a0001c0024t0001 a0002c0028t0009 a0003c0009t0001 a0004c0026t0004 a0005c0025t0001 a0006c0017t0007 a0007c0018t0001 a0008c0015t0001 a0009c0023t0001 a0010c0027t0001 a0011c0008t0001	a0000c0019t0010g0059 a0001c0001t0001g0001 a0001c0001t0001g0002 others(127): Show a0000c0019t0010g0059 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0001t0002g0060 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0088 a0001c0001t0004g0001 a0001c0001t0005g0001 a0001c0001t0005g0078 a0001c0001t0006g0004 a0001c0001t0008g0109 a0001c0001t0011g0006 a0001c0001t0013g0003 a0001c0001t0014g0001 a0001c0001t0015g0003 a0001c0001t0016g0001 a0001c0002t0001g0007 a0001c0002t0001g0019 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0102 a0001c0003t0001g0008 a0001c0003t0001g0081 a0001c0003t0001g0083 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0004t0001g0022 a0001c0004t0001g0070 a0001c0004t0001g0108 a0001c0004t0006g0058 a0001c0006t0001g0008 a0001c0007t0001g0076 a0001c0010t0012g0101 a0001c0011t0001g0002 a0001c0012t0001g0055 a0001c0013t0001g0004 a0001c0014t0001g0001 a0001c0016t0003g0069 a0001c0020t0001g0006 a0001c0021t0001g0004 a0001c0022t0001g0094 a0001c0024t0001g0063 a0002c0028t0009g0062 a0003c0009t0001g0003 a0004c0026t0004g0001 a0005c0025t0001g0071 a0006c0017t0007g0091 a0007c0018t0001g0064 a0008c0015t0001g0089 a0009c0023t0001g0041 a0010c0027t0001g0002 a0011c0008t0001g0001	379	382	0.9922	c.123 others(4): Show c.1239A>G	p.Gln others(6): Show p.Gln413Gln	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	10/22	1500/4456	1239/3228	413/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28832305	T T	C C	synonymous_variant synonymous_variant	LOW	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0012 a0001c0010t0012	a0001c0010t0012g0101 a0001c0010t0012g0101	1	382	0.0026	c.142 others(4): Show c.1422T>C	p.Ser others(6): Show p.Ser474Ser	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	11/22	1683/4456	1422/3228	474/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28832848	C C	T T	synonymous_variant synonymous_variant	LOW	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0094 a0001c0022t0001g0094	1	382	0.0026	c.162 others(4): Show c.1620C>T	p.Phe others(6): Show p.Phe540Phe	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	13/22	1881/4456	1620/3228	540/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28833118	G G	A A	synonymous_variant synonymous_variant	LOW	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0002 a0001c0011t0001g0002	1	382	0.0026	c.171 others(4): Show c.1719G>A	p.Lys others(6): Show p.Lys573Lys	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	14/22	1980/4456	1719/3228	573/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28833127	C C	A A	synonymous_variant synonymous_variant	LOW	HG01106.hp2 HG01884.hp1 HG01891.hp2 others(22): Show HG01106.hp2 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03927.hp1 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0001 a0001c0012t0001 a0001c0002t0001 a0001c0012t0001	a0001c0002t0001g0007 a0001c0002t0001g0019 a0001c0002t0001g0027 others(7): Show a0001c0002t0001g0007 a0001c0002t0001g0019 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0102 a0001c0012t0001g0055	25	382	0.0655	c.172 others(4): Show c.1728C>A	p.Pro others(6): Show p.Pro576Pro	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	14/22	1989/4456	1728/3228	576/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28834127	G G	A A	synonymous_variant synonymous_variant	LOW	HG01106.hp2 HG01884.hp1 HG01891.hp2 others(22): Show HG01106.hp2 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03654.hp1 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0001 a0001c0013t0001 a0001c0002t0001 a0001c0013t0001	a0001c0002t0001g0007 a0001c0002t0001g0019 a0001c0002t0001g0027 others(7): Show a0001c0002t0001g0007 a0001c0002t0001g0019 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0102 a0001c0013t0001g0004	25	382	0.0655	c.208 others(4): Show c.2088G>A	p.Pro others(6): Show p.Pro696Pro	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	16/22	2349/4456	2088/3228	696/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28834403	C C	A A	synonymous_variant synonymous_variant	LOW	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0001 a0001c0014t0001g0001	1	382	0.0026	c.223 others(4): Show c.2233C>A	p.Arg others(6): Show p.Arg745Arg	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	17/22	2494/4456	2233/3228	745/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28834519	G G	A A	synonymous_variant synonymous_variant	LOW	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0069 a0001c0016t0003g0069	1	382	0.0026	c.225 others(4): Show c.2259G>A	p.Pro others(6): Show p.Pro753Pro	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	18/22	2520/4456	2259/3228	753/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28834672	C C	T T	synonymous_variant synonymous_variant	LOW	HG02559.hp1 HG02572.hp2 HG02647.hp1 others(3): Show HG02559.hp1 HG02572.hp2 HG02647.hp1 HG03486.hp2 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0006 a0001c0004t0001 a0001c0004t0006	a0001c0004t0001g0022 a0001c0004t0001g0070 a0001c0004t0001g0108 others(1): Show a0001c0004t0001g0022 a0001c0004t0001g0070 a0001c0004t0001g0108 a0001c0004t0006g0058	6	382	0.0157	c.241 others(4): Show c.2412C>T	p.Pro others(6): Show p.Pro804Pro	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	18/22	2673/4456	2412/3228	804/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28835644	A A	C C	synonymous_variant synonymous_variant	LOW	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0004 a0001c0021t0001g0004	1	382	0.0026	c.278 others(4): Show c.2781A>C	p.Pro others(6): Show p.Pro927Pro	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	21/22	3042/4456	2781/3228	927/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28836064	G G	C C	synonymous_variant synonymous_variant	LOW	NA18941.hp2 NA18941.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0010 a0000c0019t0010	a0000c0019t0010g0059 a0000c0019t0010g0059	1	382	0.0026	c.302 others(4): Show c.3027G>C	p.Gly others(7): Show p.Gly1009Gly	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	22/22	3288/4456	3027/3228	1009/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28836067	G G	C C	synonymous_variant synonymous_variant	LOW	NA18941.hp2 NA18941.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0010 a0000c0019t0010	a0000c0019t0010g0059 a0000c0019t0010g0059	1	382	0.0026	c.303 others(4): Show c.3030G>C	p.Val others(7): Show p.Val1010Val	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	22/22	3291/4456	3030/3228	1010/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28836070	T T	C C	synonymous_variant synonymous_variant	LOW	NA18941.hp2 NA18941.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0010 a0000c0019t0010	a0000c0019t0010g0059 a0000c0019t0010g0059	1	382	0.0026	c.303 others(4): Show c.3033T>C	p.Pro others(7): Show p.Pro1011Pro	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	22/22	3294/4456	3033/3228	1011/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28836082	T T	C C	synonymous_variant synonymous_variant	LOW	NA18941.hp2 NA18941.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0010 a0000c0019t0010	a0000c0019t0010g0059 a0000c0019t0010g0059	1	382	0.0026	c.304 others(4): Show c.3045T>C	p.Ala others(7): Show p.Ala1015Ala	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	22/22	3306/4456	3045/3228	1015/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28836094	A A	T T	synonymous_variant synonymous_variant	LOW	NA18941.hp2 NA18941.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0010 a0000c0019t0010	a0000c0019t0010g0059 a0000c0019t0010g0059	1	382	0.0026	c.305 others(4): Show c.3057A>T	p.Ser others(7): Show p.Ser1019Ser	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	22/22	3318/4456	3057/3228	1019/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28836124	T T	A A	synonymous_variant synonymous_variant	LOW	NA18941.hp2 NA18941.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0010 a0000c0019t0010	a0000c0019t0010g0059 a0000c0019t0010g0059	1	382	0.0026	c.308 others(4): Show c.3087T>A	p.Gly others(7): Show p.Gly1029Gly	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	22/22	3348/4456	3087/3228	1029/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28836136	C C	T T	synonymous_variant synonymous_variant	LOW	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0006 a0001c0020t0001g0006	1	382	0.0026	c.309 others(4): Show c.3099C>T	p.Gly others(7): Show p.Gly1033Gly	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	22/22	3360/4456	3099/3228	1033/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28836148	A A	T T	synonymous_variant synonymous_variant	LOW	NA18941.hp2 NA18941.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0010 a0000c0019t0010	a0000c0019t0010g0059 a0000c0019t0010g0059	1	382	0.0026	c.311 others(4): Show c.3111A>T	p.Gly others(7): Show p.Gly1037Gly	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	22/22	3372/4456	3111/3228	1037/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28836157	A A	T T	synonymous_variant synonymous_variant	LOW	NA18941.hp2 NA18941.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0010 a0000c0019t0010	a0000c0019t0010g0059 a0000c0019t0010g0059	1	382	0.0026	c.312 others(4): Show c.3120A>T	p.Gly others(7): Show p.Gly1040Gly	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	22/22	3381/4456	3120/3228	1040/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28836187	A A	C C	synonymous_variant synonymous_variant	LOW	NA18941.hp2 NA18941.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0010 a0000c0019t0010	a0000c0019t0010g0059 a0000c0019t0010g0059	1	382	0.0026	c.315 others(4): Show c.3150A>C	p.Ser others(7): Show p.Ser1050Ser	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	22/22	3411/4456	3150/3228	1050/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28836196	G G	A A	synonymous_variant synonymous_variant	LOW	NA18941.hp2 NA18941.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0010 a0000c0019t0010	a0000c0019t0010g0059 a0000c0019t0010g0059	1	382	0.0026	c.315 others(4): Show c.3159G>A	p.Gly others(7): Show p.Gly1053Gly	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	22/22	3420/4456	3159/3228	1053/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28836211	A A	T T	synonymous_variant synonymous_variant	LOW	NA18941.hp2 NA18941.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0010 a0000c0019t0010	a0000c0019t0010g0059 a0000c0019t0010g0059	1	382	0.0026	c.317 others(4): Show c.3174A>T	p.Gly others(7): Show p.Gly1058Gly	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	22/22	3435/4456	3174/3228	1058/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28836226	G G	C C	synonymous_variant synonymous_variant	LOW	NA18941.hp2 NA18941.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0010 a0000c0019t0010	a0000c0019t0010g0059 a0000c0019t0010g0059	1	382	0.0026	c.318 others(4): Show c.3189G>C	p.Leu others(7): Show p.Leu1063Leu	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	22/22	3450/4456	3189/3228	1063/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28836232	G G	T T	synonymous_variant synonymous_variant	LOW	NA18941.hp2 NA18941.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0010 a0000c0019t0010	a0000c0019t0010g0059 a0000c0019t0010g0059	1	382	0.0026	c.319 others(4): Show c.3195G>T	p.Val others(7): Show p.Val1065Val	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	22/22	3456/4456	3195/3228	1065/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28836235	G G	C C	synonymous_variant synonymous_variant	LOW	NA18941.hp2 NA18941.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0010 a0000c0019t0010	a0000c0019t0010g0059 a0000c0019t0010g0059	1	382	0.0026	c.319 others(4): Show c.3198G>C	p.Gly others(7): Show p.Gly1066Gly	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	22/22	3459/4456	3198/3228	1066/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28836247	G G	C C	synonymous_variant synonymous_variant	LOW	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0055 a0001c0012t0001g0055	1	382	0.0026	c.321 others(4): Show c.3210G>C	p.Arg others(7): Show p.Arg1070Arg	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	22/22	3471/4456	3210/3228	1070/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28836247	G G	T T	synonymous_variant synonymous_variant	LOW	NA18941.hp2 NA18941.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0010 a0000c0019t0010	a0000c0019t0010g0059 a0000c0019t0010g0059	1	382	0.0026	c.321 others(4): Show c.3210G>T	p.Arg others(7): Show p.Arg1070Arg	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	22/22	3471/4456	3210/3228	1070/1075	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28836251	C C	T T	synonymous_variant synonymous_variant	LOW	NA18941.hp2 NA18941.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0010 a0000c0019t0010	a0000c0019t0010g0059 a0000c0019t0010g0059	1	382	0.0026	c.321 others(4): Show c.3214C>T	p.Leu others(7): Show p.Leu1072Leu	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	22/22	3475/4456	3214/3228	1072/1075	chr16	TogoVar
ATXN2_chr12_111447214_111604315	111457250	T T	C C	synonymous_variant synonymous_variant	LOW	NA18971.hp2 NA18980.hp2 NA19065.hp1 NA18971.hp2 NA18980.hp2 NA19065.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0145 a0001c0008t0007g0146 a0001c0008t0007g0184 a0001c0008t0007g0145 a0001c0008t0007g0146 a0001c0008t0007g0184	3	298	0.0101	c.300 others(4): Show c.3006A>G	p.Gln others(7): Show p.Gln1002Gln	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	22/25	3287/4347	3006/3468	1002/1155	chr12	TogoVar
ATXN2_chr12_111447214_111604315	111470121	C C	T T	synonymous_variant synonymous_variant	LOW	HG02071.hp1 NA18973.hp2 HG02071.hp1 NA18973.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0153 a0001c0012t0001g0188 a0001c0012t0001g0153 a0001c0012t0001g0188	2	298	0.0067	c.282 others(4): Show c.2829G>A	p.Thr others(6): Show p.Thr943Thr	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	20/25	3110/4347	2829/3468	943/1155	chr12	TogoVar
ATXN2_chr12_111447214_111604315	111470741	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0160 a0001c0026t0001g0160	1	298	0.0034	c.252 others(4): Show c.2526A>G	p.Val others(6): Show p.Val842Val	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	19/25	2807/4347	2526/3468	842/1155	chr12	TogoVar
ATXN2_chr12_111447214_111604315	111488505	G G	A A	synonymous_variant synonymous_variant	LOW	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0057 a0002c0016t0001g0057	1	298	0.0034	c.221 others(4): Show c.2211C>T	p.Asp others(6): Show p.Asp737Asp	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	15/25	2492/4347	2211/3468	737/1155	chr12	TogoVar
ATXN2_chr12_111447214_111604315	111598975	C C	T T	synonymous_variant synonymous_variant	LOW	HG00408.hp2 HG01243.hp1 HG01258.hp2 others(21): Show HG00408.hp2 HG01243.hp1 HG01258.hp2 HG01884.hp1 HG02055.hp1 HG02145.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02683.hp1 HG02809.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 NA19043.hp2 NA19082.hp1 NA20300.hp2 NA21309.hp1	a0003 a0007 a0014 a0003 a0007 a0014	a0003c0004 a0003c0005 a0007c0015 others(1): Show a0003c0004 a0003c0005 a0007c0015 a0014c0020	a0003c0004t0003 a0003c0004t0005 a0003c0004t0008 others(4): Show a0003c0004t0003 a0003c0004t0005 a0003c0004t0008 a0003c0005t0001 a0003c0005t0003 a0007c0015t0005 a0014c0020t0003	a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 others(21): Show a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0092 a0003c0004t0003g0093 a0003c0004t0003g0106 a0003c0004t0003g0107 a0003c0004t0003g0108 a0003c0004t0003g0110 a0003c0004t0003g0111 a0003c0004t0005g0086 a0003c0004t0005g0087 a0003c0004t0005g0091 a0003c0004t0005g0109 a0003c0004t0008g0215 a0003c0005t0001g0200 a0003c0005t0001g0203 a0003c0005t0001g0204 a0003c0005t0001g0205 a0003c0005t0001g0206 a0003c0005t0003g0201 a0003c0005t0003g0202 a0007c0015t0005g0004 a0014c0020t0003g0085	24	298	0.0805	c.60G others(2): Show c.60G>A	p.Gln others(5): Show p.Gln20Gln	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/25	341/4347	60/3468	20/1155	chr12	TogoVar
ATXN2_chr12_111447214_111604315	111598978	T T	C C	synonymous_variant synonymous_variant	LOW	HG00408.hp2 HG01243.hp1 HG01243.hp2 others(36): Show HG00408.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01884.hp1 HG01943.hp2 HG02055.hp1 HG02145.hp1 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02809.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 NA19009.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19074.hp2 NA19082.hp1 NA20300.hp2 NA21309.hp1	a0003 a0006 a0007 others(7): Show a0003 a0006 a0007 a0012 a0013 a0014 a0015 a0016 a0018 a0019	a0003c0004 a0003c0005 a0003c0006 others(10): Show a0003c0004 a0003c0005 a0003c0006 a0003c0007 a0006c0010 a0007c0015 a0012c0022 a0013c0021 a0014c0020 a0015c0030 a0016c0029 a0018c0028 a0019c0027	a0003c0004t0003 a0003c0004t0005 a0003c0004t0008 others(15): Show a0003c0004t0003 a0003c0004t0005 a0003c0004t0008 a0003c0005t0001 a0003c0005t0003 a0003c0006t0001 a0003c0006t0003 a0003c0007t0003 a0003c0007t0005 a0006c0010t0003 a0007c0015t0005 a0012c0022t0003 a0013c0021t0003 a0014c0020t0003 a0015c0030t0001 a0016c0029t0001 a0018c0028t0005 a0019c0027t0003	a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 others(36): Show a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0092 a0003c0004t0003g0093 a0003c0004t0003g0106 a0003c0004t0003g0107 a0003c0004t0003g0108 a0003c0004t0003g0110 a0003c0004t0003g0111 a0003c0004t0005g0086 a0003c0004t0005g0087 a0003c0004t0005g0091 a0003c0004t0005g0109 a0003c0004t0008g0215 a0003c0005t0001g0200 a0003c0005t0001g0203 a0003c0005t0001g0204 a0003c0005t0001g0205 a0003c0005t0001g0206 a0003c0005t0003g0201 a0003c0005t0003g0202 a0003c0006t0001g0211 a0003c0006t0001g0212 a0003c0006t0001g0214 a0003c0006t0003g0213 a0003c0007t0003g0114 a0003c0007t0003g0117 a0003c0007t0005g0116 a0006c0010t0003g0112 a0006c0010t0003g0113 a0007c0015t0005g0004 a0012c0022t0003g0118 a0013c0021t0003g0115 a0014c0020t0003g0085 a0015c0030t0001g0210 a0016c0029t0001g0209 a0018c0028t0005g0208 a0019c0027t0003g0207	39	298	0.1309	c.57A others(2): Show c.57A>G	p.Gln others(5): Show p.Gln19Gln	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/25	338/4347	57/3468	19/1155	chr12	TogoVar
ATXN2_chr12_111447214_111604315	111598984	C C	T T	synonymous_variant synonymous_variant	LOW	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0001 a0005c0009t0001g0002 a0005c0009t0001g0001 a0005c0009t0001g0002	2	298	0.0067	c.51G others(2): Show c.51G>A	p.Gln others(5): Show p.Gln17Gln	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/25	332/4347	51/3468	17/1155	chr12	TogoVar
ATXN2_chr12_111447214_111604315	111598993	C C	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00408.hp1 HG00544.hp1 others(183): Show HG00099.hp2 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00642.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18991.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0002c0002 a0002c0016 others(10): Show a0001c0001 a0002c0002 a0002c0016 a0003c0004 a0003c0007 a0007c0015 a0008c0023 a0009c0017 a0010c0018 a0011c0019 a0012c0022 a0013c0021 a0014c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0002c0002t0001 a0002c0002t0003 a0002c0016t0001 a0003c0004t0003 a0003c0004t0005 a0003c0004t0008 a0003c0007t0003 a0003c0007t0005 a0007c0015t0005 a0008c0023t0003 a0009c0017t0001 a0010c0018t0002 a0011c0019t0002 a0012c0022t0003 a0013c0021t0003 a0014c0020t0003	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0002g0217 others(183): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0298 a0001c0001t0003g0009 a0001c0001t0004g0216 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0283 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0006g0232 a0001c0001t0006g0235 a0001c0001t0006g0257 a0001c0001t0006g0265 a0001c0001t0006g0267 a0001c0001t0006g0274 a0001c0001t0006g0279 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0075 a0002c0016t0001g0057 a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0092 a0003c0004t0003g0093 a0003c0004t0003g0106 a0003c0004t0003g0107 a0003c0004t0003g0108 a0003c0004t0003g0110 a0003c0004t0003g0111 a0003c0004t0005g0086 a0003c0004t0005g0087 a0003c0004t0005g0091 a0003c0004t0005g0109 a0003c0004t0008g0215 a0003c0007t0003g0114 a0003c0007t0003g0117 a0003c0007t0005g0116 a0007c0015t0005g0004 a0008c0023t0003g0119 a0009c0017t0001g0083 a0010c0018t0002g0244 a0011c0019t0002g0255 a0012c0022t0003g0118 a0013c0021t0003g0115 a0014c0020t0003g0085	186	298	0.6242	c.42G others(2): Show c.42G>A	p.Gln others(5): Show p.Gln14Gln	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/25	323/4347	42/3468	14/1155	chr12	TogoVar
ATXN2_chr12_111447214_111604315	111598996	C C	T T	synonymous_variant synonymous_variant	LOW	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0003 a0003c0014t0003	a0003c0014t0003g0003 a0003c0014t0003g0003	1	298	0.0034	c.39G others(2): Show c.39G>A	p.Gln others(5): Show p.Gln13Gln	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/25	320/4347	39/3468	13/1155	chr12	TogoVar
ATXN2_chr12_111447214_111604315	111598999	C C	T T	synonymous_variant synonymous_variant	LOW	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0001 a0005c0009t0001g0002 a0005c0009t0001g0001 a0005c0009t0001g0002	2	298	0.0067	c.36G others(2): Show c.36G>A	p.Gln others(5): Show p.Gln12Gln	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/25	317/4347	36/3468	12/1155	chr12	TogoVar
ATXN3L_chrX_13313647_13325053	13318996	C C	T T	synonymous_variant synonymous_variant	LOW	HG00323.hp2 HG00738.hp1 HG00741.hp2 others(19): Show HG00323.hp2 HG00738.hp1 HG00741.hp2 HG01123.hp2 HG01257.hp1 HG01258.hp1 HG01952.hp1 HG02015.hp1 HG02257.hp2 HG02523.hp2 HG02698.hp1 HG03239.hp1 HG03704.hp2 HG03834.hp1 HG04199.hp1 HG04228.hp1 NA18948.hp1 NA18991.hp2 NA18994.hp1 NA19009.hp1 NA19065.hp1 NA19077.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	22	317	0.0694	c.939 others(3): Show c.939G>A	p.Arg others(6): Show p.Arg313Arg	ATXN3L	ENSG00000123594.7	transcript	ENST00000380622.5	protein_coding	1/1	1058/1407	939/1068	313/355	chrX	TogoVar
ATXN3L_chrX_13313647_13325053	13319629	G G	A A	synonymous_variant synonymous_variant	LOW	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0000 a0002c0009t0001g0000	1	317	0.0032	c.306 others(3): Show c.306C>T	p.Leu others(6): Show p.Leu102Leu	ATXN3L	ENSG00000123594.7	transcript	ENST00000380622.5	protein_coding	1/1	425/1407	306/1068	102/355	chrX	TogoVar

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